D40N (p.Asp40Asn) variant of OTOF (Otoferlin)
D40N (p.Asp40Asn) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- gnomAD rs1241872820
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.40
- CADD 22.70
- PolyPhen-2 0.97
- SIFT 0.12
- Population evidence available
- Structural context available